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Known Diseases associated with this Protein: |  HEPATIC LIPASE DEFICIENCY
| HEPATIC LIPASE DEFICIENCY (HL DEFICIENCY)
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|  | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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 Default View:
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 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs6083 | Polymorphism | p.ASN215SER | N/A | | Swiss-Prot | VAR_017026 | Polymorphism | p.ASP409ALA | N/A | | dbSNP | rs3829462 | Polymorphism | p.PHE356LEU | N/A | | Swiss-Prot | VAR_014179 | Polymorphism | p.SER440ASN | N/A | | Swiss-Prot | VAR_004209 | Disease | p.SER289PHE | Hepatic lipase deficiency (HL deficiency) | | Swiss-Prot | VAR_004210 | Disease | p.THR405MET | Hepatic lipase deficiency (HL deficiency) | | Swiss-Prot | VAR_017024 | Polymorphism | p.VAL342ILE | N/A | | dbSNP | rs6078 | Polymorphism | p.VAL95MET | N/A | | OMIM | 151670.0006 | Disease | p.ALA174THR | HEPATIC LIPASE DEFICIENCY | | OMIM | 151670.0002 | Disease | p.SER267PHE | HEPATIC LIPASE DEFICIENCY | | OMIM | 151670.0001 | Disease | p.THR383MET | HEPATIC LIPASE DEFICIENCY |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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317373430
LIPC_HUMAN RecName: Full=Hepatic triacylglycerol lipase; Short=HL; Short=Hepatic lipase; AltName: Full=Lipase member C; Flags: Precursor
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